Varaico: Literature-Extracted Genetic Variants

BARD1

1,331 papers

RefSeq Summary

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of ...

Pfam Domains

zf-RING_6aa 41–83UCSCzf-RING of BARD1-type protein

zf-RING_6aa 41–105UCSCzf-RING of BARD1-type protein

BRCTaa 116–189UCSCBRCA1 C Terminus (BRCT) domain

Ankaa 427–459UCSCAnkyrin repeat

Ankaa 460–492UCSCAnkyrin repeat

Ankaa 493–525UCSCAnkyrin repeat

Gene Aliases

HGNC Name

BRCA1 associated RING domain 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

41 papers

NM_000465.4

p.Q564H

c.1692G>C

Surrounding Variants

41 papers

NM_000465.4

p.Q564H

c.1692G>T

8 papers

NM_000465.4

p.R565C

c.1693C>T

1 paper

NM_000465.4

p.Q564R

c.1691A>G

1 paper

NM_000465.4

p.R565P

c.1694G>C

11 papers

NM_000465.4

p.R565H

c.1694G>A

67 papers

NM_000465.4

p.Q564*

c.1690C>T

2 papers

NM_000465.4

p.Q564E

c.1690C>G

1 paper

NM_000465.4

p.Q564K

c.1690C>A

1 paper

NM_000465.4

p.G563V

c.1688G>T

3 papers

NM_000465.4

p.T562I

c.1685C>T

1 paper

NM_000465.4

p.T562S

c.1685C>G

1 paper

NM_000465.4

p.T562S

c.1684A>T